Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Sean, Humphray"'
Autor:
Eun-Ang Raiber, Dario Beraldi, Sergio Martínez Cuesta, Gordon R. McInroy, Zoya Kingsbury, Jennifer Becq, Terena James, Margarida Lopes, Kieren Allinson, Sarah Field, Sean Humphray, Thomas Santarius, Colin Watts, David Bentley, Shankar Balasubramanian
Publikováno v:
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-7 (2017)
Abstract Aberrant genetic and epigenetic variations drive malignant transformation and are hallmarks of cancer. Using PCR-free sample preparation we achieved the first in-depth whole genome (hydroxyl)-methylcytosine, single-base-resolution maps from
Externí odkaz:
https://doaj.org/article/d643e54649364e6b98631c4333afedd9
Autor:
Reuben S. Harris, Scott H. Kaufmann, Hugues Sicotte, Ellen L. Goode, Kimberly R. Kalli, Lynn C. Hartmann, Elizabeth M. Swisher, Jeremy Chien, John Peden, Zoya Kingsbury, Sean Humphray, Russell Grocock, Jian-Bing Fan, R. Keira Cheetham, Marina Bibikova, David Bentley, Craig April, Debra A. Bell, Viji Shridhar, Julie M. Cunningham, Ann L. Oberg, Matthew J. Maurer, Yuji Zhang, Ying Li, William L. Brown, Emily K. Law, Jason B. Nikas, Rachel I. Vogel, Anurag Rathore, Nuri A. Temiz, Michael A. Carpenter, Michael B. Burns, Steven N. Hart, Brandon Leonard
PDF file - 481K, Table S1: Cell line information Table S2: Quantitative PCR primer and probe sequences. Table S3: Non-malignant tissues tested Table S4: Early stage serous ovarian tumors used in sequence analyses Table S5: Additional ovarian tumor sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::257df24e001a06c97dcee7ba0d83e354
https://doi.org/10.1158/0008-5472.22396406.v1
https://doi.org/10.1158/0008-5472.22396406.v1
Autor:
Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
Publikováno v:
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. N
Autor:
Lukas A. Mueller, René Klein Lankhorst, Steven D. Tanksley, James J. Giovannoni, Ruth White, Julia Vrebalov, Zhangjun Fei, Joyce van Eck, Robert Buels, Adri A. Mills, Naama Menda, Isaak Y. Tecle, Aureliano Bombarely, Stephen Stack, Suzanne M. Royer, Song-Bin Chang, Lindsay A. Shearer, Byung Dong Kim, Sung-Hwan Jo, Cheol-Goo Hur, Doil Choi, Chang-Bao Li, Jiuhai Zhao, Hongling Jiang, Yu Geng, Yuanyuan Dai, Huajie Fan, Jinfeng Chen, Fei Lu, Jinfeng Shi, Shouhong Sun, Jianjun Chen, Xiaohua Yang, Chen Lu, Mingsheng Chen, Zhukuan Cheng, Chuanyou Li, Hongqing Ling, Yongbiao Xue, Ying Wang, Graham B. Seymour, Gerard J. Bishop, Glenn Bryan, Jane Rogers, Sarah Sims, Sarah Butcher, Daniel Buchan, James Abbott, Helen Beasley, Christine Nicholson, Clare Riddle, Sean Humphray, Karen McLaren, Saloni Mathur, Shailendra Vyas, Amolkumar U. Solanke, Rahul Kumar, Vikrant Gupta, Arun K. Sharma, Paramjit Khurana, Jitendra P. Khurana, Akhilesh Tyagi, Sarita, Parul Chowdhury, Smriti Shridhar, Debasis Chattopadhyay, Awadhesh Pandit, Pradeep Singh, Ajay Kumar, Rekha Dixit, Archana Singh, Sumera Praveen, Vivek Dalal, Mahavir Yadav, Irfan Ahmad Ghazi, Kishor Gaikwad, Tilak Raj Sharma, Trilochan Mohapatra, Nagendra Kumar Singh, Dóra Szinay, Hans de Jong, Sander Peters, Marjo van Staveren, Erwin Datema, Mark W.E.J. Fiers, Roeland C.H.J. van Ham, P. Lindhout, Murielle Philippot, Pierre Frasse, Farid Regad, Mohamed Zouine, Mondher Bouzayen, Erika Asamizu, Shusei Sato, Hiroyuki Fukuoka, Satoshi Tabata, Daisuke Shibata, Miguel A. Botella, M. Perez-Alonso, V. Fernandez-Pedrosa, Sonia Osorio, Amparo Mico, Antonio Granell, Zhonghua Zhang, Jun He, Sanwen Huang, Yongchen Du, Dongyu Qu, Longfei Liu, Dongyuan Liu, Jun Wang, Zhibiao Ye, Wencai Yang, Guoping Wang, Alessandro Vezzi, Sara Todesco, Giorgio Valle, Giulia Falcone, Marco Pietrella, Giovanni Giuliano, Silvana Grandillo, Alessandra Traini, Nunzio D'Agostino, Maria Luisa Chiusano, Mara Ercolano, Amalia Barone, Luigi Frusciante, Heiko Schoof, Anika Jöcker, Rémy Bruggmann, Manuel Spannagl, Klaus X.F. Mayer, Roderic Guigó, Francisco Camara, Stephane Rombauts, Jeffrey A. Fawcett, Yves Van de Peer, Sandra Knapp, Dani Zamir, Willem Stiekema
Publikováno v:
The Plant Genome, Vol 2, Iss 1, Pp 78-92 (2009)
The genome of tomato ( L.) is being sequenced by an international consortium of 10 countries (Korea, China, the United Kingdom, India, the Netherlands, France, Japan, Spain, Italy, and the United States) as part of the larger “International Solanac
Externí odkaz:
https://doaj.org/article/1858359b6c874685a9198d615b63ad63
Autor:
Nayia Petousi, Richard R. Copley, Terence R.J. Lappin, Sally E. Haggan, Celeste M. Bento, Holger Cario, Melanie J. Percy, The WGS Consortium, Peter J. Ratcliffe, Peter A. Robbins, Mary Frances McMullin, Peter Donnelly, John Bell, David Bentley, Gil McVean, Peter Ratcliffe, Jenny Taylor, Andrew Wilkie, Peter Donelly, John Broxholme, David Buck, Jean-Baptiste Cazier, Richard Cornall, Lorna Gregory, Julian Knight, Gerton Lunter, Ian Tomlinson, Christopher Allan, Moustafa Attar, Angie Green, Sean Humphray, Zoya Kingsbury, Sarah Lamble, Lorne Lonie, Alistair Pagnamenta, Paolo Piazza, Guadelupe Polanco, Amy Trebes, Richard Copley, Simon Fiddy, Russell Grocock, Edouard Hatton, Chris Holmes, Linda Hughes, Peter Humburg, Alexander Kanapin, Stefano Lise, Hilary Martin, Lisa Murray, Davis McCarthy, Andy Rimmer, Natasha Sahgal, Ben Wright, Chris Yau
Publikováno v:
Haematologica, Vol 99, Iss 10 (2014)
Externí odkaz:
https://doaj.org/article/1c06d35da4a3404aa3262eec0c9a8dff
Autor:
Noriko Miyake, Tsutomu Ogata, Irene Stolte-Dijkstra, Dimitra Micha, Cas Simons, Zoya Kingsbury, Annette Bley, Alex Conant, Bryan R. Lajoie, Ferdy K. Cayami, Dennis Lal, Amy Pizzino, Andrea Superti-Furga, Bernd A. Neubauer, Shihoko Kimura-Ohba, Deborah A Sival, Stephen J. Bent, Andreas Hahn, Sean Humphray, Ryan J. Taft, Adeline Vanderver, Nicole I. Wolf, Karen W. Gripp, Naomichi Matsumoto, Joanna Crawford, Nicole Ulrick, Keiichi Ozono, Dorothy I. Bulas, Richard J. Sinke
Publikováno v:
Neurogenetics
Neurogenetics, 18(4), 185-194. SPRINGER
Miyake, N, Wolf, N I, Cayami, F K, Crawford, J, Bley, A, Bulas, D, Conant, A, Bent, S J, Gripp, K W, Hahn, A, Humphray, S, Kimura-Ohba, S, Kingsbury, Z, Lajoie, B R, Lal, D, Micha, D, Pizzino, A, Sinke, R J, Sival, D, Stolte-Dijkstra, I, Superti-Furga, A, Ulrick, N, Taft, R J, Ogata, T, Ozono, K, Matsumoto, N, Neubauer, B A, Simons, C & Vanderver, A 2017, ' X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 ', Neurogenetics, vol. 18, no. 4, pp. 185-194 . https://doi.org/10.1007/s10048-017-0520-x
Neurogenetics, 18(4), 185-194. Springer Verlag
Neurogenetics, vol. 18, no. 4, pp. 185-194
Neurogenetics, 18(4), 185-194. SPRINGER
Miyake, N, Wolf, N I, Cayami, F K, Crawford, J, Bley, A, Bulas, D, Conant, A, Bent, S J, Gripp, K W, Hahn, A, Humphray, S, Kimura-Ohba, S, Kingsbury, Z, Lajoie, B R, Lal, D, Micha, D, Pizzino, A, Sinke, R J, Sival, D, Stolte-Dijkstra, I, Superti-Furga, A, Ulrick, N, Taft, R J, Ogata, T, Ozono, K, Matsumoto, N, Neubauer, B A, Simons, C & Vanderver, A 2017, ' X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 ', Neurogenetics, vol. 18, no. 4, pp. 185-194 . https://doi.org/10.1007/s10048-017-0520-x
Neurogenetics, 18(4), 185-194. Springer Verlag
Neurogenetics, vol. 18, no. 4, pp. 185-194
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families w
Autor:
Lucia Carbone, R Alan Harris, Gery M Vessere, Alan R Mootnick, Sean Humphray, Jane Rogers, Sung K Kim, Jeffrey D Wall, David Martin, Jerzy Jurka, Aleksandar Milosavljevic, Pieter J de Jong
Publikováno v:
PLoS Genetics, Vol 5, Iss 6, p e1000538 (2009)
Gibbon species have accumulated an unusually high number of chromosomal changes since diverging from the common hominoid ancestor 15-18 million years ago. The cause of this increased rate of chromosomal rearrangements is not known, nor is it known if
Externí odkaz:
https://doaj.org/article/43c01e1d3c34416d83d0a34a4185c0f2
Autor:
Robert Illingworth, Alastair Kerr, Dina Desousa, Helle Jørgensen, Peter Ellis, Jim Stalker, David Jackson, Chris Clee, Robert Plumb, Jane Rogers, Sean Humphray, Tony Cox, Cordelia Langford, Adrian Bird
Publikováno v:
PLoS Biology, Vol 6, Iss 1, p e22 (2008)
CpG islands (CGIs) are dense clusters of CpG sequences that punctuate the CpG-deficient human genome and associate with many gene promoters. As CGIs also differ from bulk chromosomal DNA by their frequent lack of cytosine methylation, we devised a CG
Externí odkaz:
https://doaj.org/article/33b0f73ece2d4373b071dcf909a6f631
Autor:
Lucia Carbone, Gery M Vessere, Boudewijn F H ten Hallers, Baoli Zhu, Kazutoyo Osoegawa, Alan Mootnick, Andrea Kofler, Johannes Wienberg, Jane Rogers, Sean Humphray, Carol Scott, R Alan Harris, Aleksandar Milosavljevic, Pieter J de Jong
Publikováno v:
PLoS Genetics, Vol 2, Iss 12, p e223 (2006)
Gibbons are part of the same superfamily (Hominoidea) as humans and great apes, but their karyotype has diverged faster from the common hominoid ancestor. At least 24 major chromosome rearrangements are required to convert the presumed ancestral kary
Externí odkaz:
https://doaj.org/article/65e92d206e034fbb977ceb1645b453d0
Autor:
David Bentley, Thomas Santarius, Gordon R. McInroy, Jennifer Becq, Terena James, Sean Humphray, Colin Watts, Kieren Allinson, Dario Beraldi, Sergio Martínez Cuesta, Sarah F. Field, Shankar Balasubramanian, Eun-Ang Raiber, Margarida Lopes, Zoya Kingsbury
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c409d06b9a5c310027fe2c30b3079a8
https://europepmc.org/articles/PMC5692229/
https://europepmc.org/articles/PMC5692229/